Genetic analysis is a fundamental tool in life sciences research, including, for example, pharmaceutical development, medical diagnostics, agriculture, and academic research toward understanding the basic operation of life. A large number of tools have been developed to facilitate such genetic analysis and manipulation, including, for example, nucleic acid amplification and monitoring techniques, nucleic acid sequencing techniques, and expression profiling techniques.
Despite major advances in each of these areas over the past several decades, there always remains room for improvement of even the state of the art techniques. By way of example, recent advances in nucleic acid sequencing employ optical confinement techniques to provide the ability to eavesdrop on polymerase enzymes as they incorporate labeled nucleotide analogs in a template mediated primer extension reaction, providing a real-time monitoring of nucleic acid synthesis that is exploited to identify the sequence of nucleotides in the template nucleic acid. The technique is used for the full range of genetic analysis, including site specific sequencing, genotype analysis, re-sequencing, and de novo sequencing applications.
The ability to observe the real time synthesis of nucleic acids and so derive their sequences pushes the horizons of genetic analysis further back to expose other potential opportunities for improvements to genetic analysis technology. The present invention identifies some of these opportunities and provides a number of solutions.